The recent passing of Vinicio Riva at the age of 63 has brought attention back to the rare genetic disease that had disfigured his face since childhood. Riva suffered from neurofibromatosis type 1, also known as Von Recklinghausen’s disease, which is characterized by a predisposition to the development of tumors. This rare disease affects approximately one person in every 2,500-3,000 births.
Riva’s photo with Pope Francis, in which the Pope hugged and caressed him, became a symbol of inclusion and compassion towards those with disabilities. The image went around the world, drawing attention to the struggles of those with disabling illnesses.
Von Recklinghausen’s disease is often associated with the case of John Merrick, portrayed in the film ‘The Elephant Man’ by David Lynch. However, Merrick actually suffered from a different rare disease called Proteus syndrome, which is characterized by abnormal growth of a part of the body.
As for treatment of Von Recklinghausen’s disease, children affected by neurofibromatosis type 1 require regular check-ups, including evaluations of growth, blood pressure, neuro-cognitive development, and ophthalmological evaluations. In some cases, brain magnetic resonance imaging may be necessary for the early diagnosis of glioma. However, there is no unanimous agreement on this approach, and only 5% of diagnosed gliomas require treatment, while the remaining 95% are monitored.
Riva’s passing has brought attention to the challenges faced by those with rare genetic diseases and the need for greater awareness and support for affected individuals. His strength and resilience in the face of such adversity serve as an inspiration to many.